JP7842700B2 - 相同組換え修復欠損の検出 - Google Patents

相同組換え修復欠損の検出

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Publication number
JP7842700B2
JP7842700B2 JP2022568800A JP2022568800A JP7842700B2 JP 7842700 B2 JP7842700 B2 JP 7842700B2 JP 2022568800 A JP2022568800 A JP 2022568800A JP 2022568800 A JP2022568800 A JP 2022568800A JP 7842700 B2 JP7842700 B2 JP 7842700B2
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hrd
sequence
determining
nucleic acid
cancer
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JP2023526252A5 (https=
JP2023526252A (ja
Inventor
ジェニファー イェン，
エレナ ヘルマン，
アリエル ヤブロノビッチ，
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ガーダント ヘルス， インコーポレイテッド
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Medical Informatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Biochemistry (AREA)
  • Public Health (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Primary Health Care (AREA)
  • Epidemiology (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Biomedical Technology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medicinal Chemistry (AREA)
  • General Chemical & Material Sciences (AREA)
JP2022568800A 2020-05-14 2021-05-14 相同組換え修復欠損の検出 Active JP7842700B2 (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US202063025126P 2020-05-14 2020-05-14
US63/025,126 2020-05-14
US202063041721P 2020-06-19 2020-06-19
US63/041,721 2020-06-19
PCT/US2021/032539 WO2021231921A1 (en) 2020-05-14 2021-05-14 Homologous recombination repair deficiency detection

Publications (3)

Publication Number Publication Date
JP2023526252A JP2023526252A (ja) 2023-06-21
JP2023526252A5 JP2023526252A5 (https=) 2024-05-17
JP7842700B2 true JP7842700B2 (ja) 2026-04-08

Family

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Family Applications (1)

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JP2022568800A Active JP7842700B2 (ja) 2020-05-14 2021-05-14 相同組換え修復欠損の検出

Country Status (4)

Country Link
US (3) US12241126B2 (https=)
EP (1) EP4150113A1 (https=)
JP (1) JP7842700B2 (https=)
WO (1) WO2021231921A1 (https=)

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CN114400045B (zh) * 2022-01-28 2024-09-20 元码基因科技（北京）股份有限公司 基于二代测序检测同源重组修复缺陷的方法、探针组、试剂盒和系统
CN114694752B (zh) * 2022-03-09 2023-03-10 至本医疗科技（上海）有限公司 预测同源重组修复缺陷的方法、计算设备和介质
EP4496904A4 (en) * 2022-03-23 2026-03-18 Arima Genomics Inc METHODS FOR SELECTING AND TREATMENT OF CANCER PATIENTS WHO ARE CANDIDATES FOR TREATMENT WITH PARP INHIBITORS
WO2024124181A2 (en) * 2022-12-09 2024-06-13 The Broad Institute, Inc. Compositions and methods for detecting homologous recombination
EP4502183A1 (en) * 2023-08-02 2025-02-05 Fundació Privada Institut d'Investigació Oncològica de Vall Hebron Method for determining the homologous recombination deficiency status of a tumor and for predicting the response of a cancer to a therapy
WO2025059338A1 (en) * 2023-09-12 2025-03-20 Guardant Health, Inc. Methods for analyzing nucleic acids using sequence read family size distribution
WO2025213080A2 (en) * 2024-04-04 2025-10-09 Exai Bio Inc. Systems and methods for detection of non-coding rnas
WO2025217185A1 (en) * 2024-04-09 2025-10-16 Foundation Medicine, Inc. Parp inhibitors for the treatment of advanced prostate cancer
CN121188513B (zh) * 2025-11-24 2026-03-17 崖州湾国家实验室 一种基于基因组扫描的小麦差异转座元件的检测方法

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JP2017533693A (ja) 2014-08-15 2017-11-16 ミリアド・ジェネティックス・インコーポレイテッド 相同組換え欠損を評価するための方法および材料
JP2018535481A (ja) 2015-10-10 2018-11-29 ガーダント ヘルス， インコーポレイテッド 無細胞ｄｎａ分析における遺伝子融合検出の方法および応用
JP2020521216A (ja) 2017-05-19 2020-07-16 ガーダント ヘルス， インコーポレイテッド 挿入および欠失を検出するための方法およびシステム

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JP2018535481A (ja) 2015-10-10 2018-11-29 ガーダント ヘルス， インコーポレイテッド 無細胞ｄｎａ分析における遺伝子融合検出の方法および応用
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Also Published As

Publication number Publication date
US12031186B2 (en) 2024-07-09
EP4150113A1 (en) 2023-03-22
JP2023526252A (ja) 2023-06-21
US20220025468A1 (en) 2022-01-27
US20230107807A1 (en) 2023-04-06
WO2021231921A1 (en) 2021-11-18
US12241126B2 (en) 2025-03-04
US20250129426A1 (en) 2025-04-24

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